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Echinobase
Summary Literature (0)
DOID:0080056 - achondrogenesis type II

Disease Ontology Definition:An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.

Synonyms:

Echinobase Genes : col2a1


MIM:
MIM:200610 - achondrogenesis, type ii; acg2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): achondrogenesis (is_a), autosomal dominant disease (is_a)